{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16042607",
  "communityStandardTitle": [
    "NM_000089.4(COL1A2):c.2531G>C (p.Gly844Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=359684[alleleid]",
        "alleleId": 359684,
        "preferredName": "NM_000089.4(COL1A2):c.2531G>C (p.Gly844Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/373093",
        "RCV": [
          "RCV000414112",
          "RCV002230748"
        ],
        "variationId": 373093
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.94052396G>C?assembly=hg19",
        "id": "chr7:g.94052396G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.94423084G>C?assembly=hg38",
        "id": "chr7:g.94423084G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/928361235",
        "rs": 928361235
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-94423084-G-C?dataset=gnomad_r3",
        "id": "7-94423084-G-C",
        "variant": "7:94423084 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-94423084-G-C?dataset=gnomad_r4",
        "id": "7-94423084-G-C",
        "variant": "7:94423084 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 94423084,
          "referenceAllele": "G",
          "start": 94423083
        }
      ],
      "hgvs": [
        "NC_000007.14:g.94423084G>C",
        "CM000669.2:g.94423084G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 94052396,
          "referenceAllele": "G",
          "start": 94052395
        }
      ],
      "hgvs": [
        "NC_000007.13:g.94052396G>C",
        "CM000669.1:g.94052396G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 93890332,
          "referenceAllele": "G",
          "start": 93890331
        }
      ],
      "hgvs": [
        "NC_000007.12:g.93890332G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 33524,
          "referenceAllele": "G",
          "start": 33523
        }
      ],
      "hgvs": [
        "NG_007405.1:g.33524G>C",
        "LRG_2:g.33524G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000570"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2668,
          "referenceAllele": "G",
          "start": 2667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000297268.11:c.2531G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297268.6:p.Gly844Ala",
        "hgvsWellDefined": "ENSP00000297268.6:p.Gly844Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744510",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297268.11:c.2531G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000089.4:c.2531G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297268.6:p.Gly844Ala"
          },
          "RefSeq": {
            "hgvs": "NP_000080.2:p.Gly844Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3002,
          "referenceAllele": "G",
          "start": 3001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000297268.10:c.2531G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297268.6:p.Gly844Ala",
        "hgvsWellDefined": "ENSP00000297268.6:p.Gly844Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254445"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 614,
          "referenceAllele": "G",
          "start": 613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000481570.5:n.614G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321454"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 928,
          "referenceAllele": "G",
          "start": 927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000497316.5:n.928G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333576"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2643,
          "referenceAllele": "G",
          "start": 2642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000620463.1:c.2525G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477719.1:p.Gly842Ala",
        "hgvsWellDefined": "ENSP00000477719.1:p.Gly842Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404843"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645454049",
      "coordinates": [
        {
          "allele": "C",
          "end": 3002,
          "referenceAllele": "G",
          "start": 3001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "NM_000089.3:c.2531G>C",
        "LRG_2t1:c.2531G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000080.2:p.Gly844Ala",
        "hgvsWellDefined": "NP_000080.2:p.Gly844Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006153"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645454049",
      "coordinates": [
        {
          "allele": "C",
          "end": 2668,
          "referenceAllele": "G",
          "start": 2667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "NM_000089.4:c.2531G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000080.2:p.Gly844Ala",
        "hgvsWellDefined": "NP_000080.2:p.Gly844Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674696",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297268.11:c.2531G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000089.4:c.2531G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297268.6:p.Gly844Ala"
          },
          "RefSeq": {
            "hgvs": "NP_000080.2:p.Gly844Ala"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}